Current studies on cognitive processes focused also on specificity and neurobiology of working memory. Working memory is mostly connected with the activity of prefrontal cortex, and their disturbances are an important element in the etiopathogenesis of mental illnesses. Activity of different neurotransmitters and also neurotrophic systems, especially brain derived neurotrophic factors (BDNF) play an important role in memory processes. It is also important in brain developmental processes and the polymorphism of BDNF gene now is in the center of genetic-molecular studies on working memory processes. The aim of this study was to evaluate a relation between polymorphisms Val66Met and C-270T of BDNF gene and the efficiency of working memory measured by neuropsychological tools: Wisconsin Card Sorting Test (WCST), Stroop test and Trail Making Test A&B in healthy subjects. The study was performed on 90 healthy volunteers (33 women, 57 men) aged 18-58 years. The results obtained have demonstrated the relation between performance on some of neuropsychological tests and polymorphism C-270T of BDNF gene, and the relationship was different in male and female group. However no association between the performance of the neuropsychological tests and polymorphism of Val66Met of BDNF gene was found. The results indicate different influence of the BDNF gene polymorphisms in working memory processes.
Working memory is an ability to keep information in short-term memory and manipulate them “on line”. Working memory is also involved in complex frontal executive functions. The role of dopaminergic system in modulating working memory processes in prefrontal cortex is well established. Also the role of serotoninergic receptors is postulated. The purpose of this study was to assess the association between the polymorphisms of dopaminergic (DRD1, DRD3, DRD4, COMT) and serotoninergic (SERT – serotonin transporter, 5HT2A, 5HT2C) genes’ polymorphisms and performance on WCST in 200 volunteers from the Polish population. We found the association between DRD1, DRD4, COMT and SERT genes polymorphisms and the performance on WCST. The results obtained in the study indicate that dopaminergic and serotoninergic genes may play a role in modulating the executive function and working memory processes in healthy subjects. The pattern of this influence may be different in males and females. Moreover, the relationship between the efficacy of prefrontal cognitive function and genes polymorphisms may differ between healthy subjects and schizophrenic patients.
Genetic background and clinical picture of mood disorders (MD) are complex and may depend on many genes and their potential interactions as well as environmental factors. Therefore, clinical variations, or endophenotypes, were suggested for association studies. The aim of the study was to investigate association between the chronotype (CH) and quality of sleep characteristics with polymorphisms CLOCK, ARNTL, TIMELESS and PER3 genes in MD. We included a total sample of 111 inpatients and 126 healthy controls. To assess CH we applied Morningness-Eveningness Questionnaire (MEQ). Additionally, we defined the quality and patterns of sleep using The Pittsburgh Sleep Quality Index (PSQI) and Epworth Sleepiness Scale (ESS). We applied Kruskal-Wallis test to determine associations. The main positive findings refer to associations between selected polymorphisms and: 1) chronotype with the ARNTL gene (rs11824092 and rs1481892) and the CLOCK (rs1268271), 2) sleep duration with the CLOCK gene (rs3805148) and the TIM gene (rs2291739), 3) daytime dysfunction with the PER3 gene (rs228727, rs228642, rs10864315), 4) subjective sleep quality with the ARNTL gene (rs11824092, rs1982350), 5) sleep disturbances with the ARNTL gene (rs11600996). We also found the significant epistatic interactions between polymorphism of the PER3 gene (rs2640909) & the CLOCK gene (rs11932595) and following sleep quality variables: sleep duration, habitual sleep efficiency and subjective sleep quality. The present study suggests a putative role of the analyzed clock genes polymorphisms in chronotype in the control group and in sleep quality disturbances in the course of MD. The results indicate that PSQI variables can be used to refine phenotype in association studies of clock genes in MD.
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